Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction

por Beck, David B., Cusmano-Ozog, Kristina, Andescavage, Nickie, Leon, Eyby
Publicado 2018

Recent tPA administration can cause pseudo‐hyperargininemia and may mimic arginase deficiency or arginine supplementation

por Cusmano‐Ozog, Kristina P., Renck, Alicia K., Tise, Christina G.
Publicado 2022

Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia

por Muriello, Michael J., Viall, Sarah, Bottiglieri, Teodoro, Cusmano-Ozog, Kristina, Ferreira, Carlos R.
Publicado 2017

Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder

por Tise, Christina G., Palma, Melinda J., Cusmano-Ozog, Kristina P., Matalon, Dena R.
Publicado 2023

Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy

por Kruszka, Paul S., Kirmse, Brian, Zand, Dina J., Cusmano-Ozog, Kristina, Spector, Elaine, Van Hove, Johan L., Chapman, Kimberly A.
Publicado 2014

Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis

por Raval, Donna B., Cusmano-Ozog, Kristina P., Ayyub, Omar, Jenevein, Callie, Kofman, Laura H., Lanpher, Brendan, Hauser, Natalie, Regier, Debra S.
Publicado 2016

Liver-Directed Adeno-Associated Virus Serotype 8 Gene Transfer Rescues a Lethal Murine Model of Citrullinemia Type 1

por Chandler, Randy J., Tarasenko, Tatiana N., Cusmano-Ozog, Kristina, Sun, Qin, Sutton, V. Reid, Venditti, Charles P., McGuire, Peter J.
Publicado 2013

Degree of Glutathione Deficiency and Redox Imbalance Depend on Subtype of Mitochondrial Disease and Clinical Status

por Enns, Gregory M., Moore, Tereza, Le, Anthony, Atkuri, Kondala, Shah, Monisha K., Cusmano-Ozog, Kristina, Niemi, Anna-Kaisa, Cowan, Tina M.
Publicado 2014

Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

por Fraser, Jamie L., Vanderver, Adeline, Yang, Sandra, Chang, Taeun, Cramp, Laura, Vezina, Gilbert, Lichter-Konecki, Uta, Cusmano-Ozog, Kristina P., Smpokou, Patroula, Chapman, Kimberly A., Zand, Dina J.
Publicado 2014

Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry

por Billington, Charles J., Chapman, Kimberly A., Leon, Eyby, Meltzer, Beatrix W., Berger, Seth I., Olson, Matthew, Figler, Robert A., Hoang, Steve A., Wanxing, Cui, Wamhoff, Brian R., Collado, M. Sol, Cusmano‐Ozog, Kristina
Publicado 2022